Novel dominant K(ATP) channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping

Inactivating mutations in the genes encoding the two subunits of the pancreatic beta‐cell K(ATP) channel, ABCC8 and KCNJ11, are the most common finding in children with congenital hyperinsulinism (HI). Interpreting novel missense variants in these genes is problematic, because they can be either dom...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Am J Med Genet A
Main Authors: Boodhansingh, Kara E., Kandasamy, Balamurugan, Mitteer, Lauren, Givler, Stephanie, De Leon, Diva D., Shyng, Show‐Ling, Ganguly, Arupa, Stanley, Charles A.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2019
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6852436/
https://ncbi.nlm.nih.gov/pubmed/31464105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61335
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker